Results 81 to 90 of about 259 (141)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Onko Etelä-Pohjanmaan murteessa rautakautisia jälkiä? [PDF]

, 2017
On vanhastaan tunnettua, että Etelä-Pohjanmaan murteessa esiintyy arkaismeja, jotka ovat vieraita muille suomen länsimurteille. Tässä artikkelissa analysoidaan yhdeksän arkaistisen eteläpohjalaisen piirteen levikkiä ja historiaa ja suhteutetaan niitä ...
Matti Leiviskä, Harri Mantila, Leiviskä, Matti, Mantila, Harri   +3 more
core   +1 more source

Digital twins and the virtual epileptic patient: Toward simulation‐based neurology

Epilepsia, EarlyView.
Antonella Riva, Francesca Spataro, Antonio Cerasa, Pasquale Striano, Egidio D'Angelo   +4 more
wiley   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1445-1454, December 2026.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

The Baltic Finnish Peoples Divided by State and Administrative Borders: Territorial Development of the Karelians, Vepsians, and Setos

Baltic Region, 2015
Ethnocultural diversity of the Russian Federation is not only an important component of its historical heritage but also a significant resource for development. However, a number of ethnic groups are on the brink of extinction. The aim of this study is to investigate the impact of changes in state and administrative borders on the territorial and ...
MANAKOV ANDREI G., TETERINA NATALIA K.
openaire   +3 more sources

Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome

International Journal of Cancer, Volume 159, Issue 10, Page 2585-2594, 15 November 2026.
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin, Dong Keon Kim, Yoojeong Seo, Hyeon Hee Lee, Jihye Park, Soo Jung Park, Jae Jun Park, Jae Hee Cheon, Jongwon Oh, Sanghoo Lee, Tae Il Kim   +10 more
wiley   +1 more source

Significance of Minority Language Media to Minorities in Russian Karelia 1995

, 2012
Tutkimuksessa kartoitettiin omakielisten radio- ja televisiolähetysten merkitystä Venäjän Karjalan kansallisille vähemmistöille sekä selvitettiin, mitä mieltä he ovat Karjalan teleradioyhtiön kansallisen toimituksen ohjelmistosta.
Torkkola, Sinikka, Skön, Kirsi
core   +1 more source

Genome Sequencing Outperforms Exome Sequencing in Formalin‐Fixed Paraffin Embedded Tumors Leading to Improved Treatment Options

Cancer Medicine, Volume 15, Issue 11, November 2026.
ABSTRACT Precision oncology is based on comprehensive molecular characterization of a patient's tumor. This is mostly realized by next‐generation sequencing panels or exome sequencing. Data on the value of genome sequencing from formalin‐fixed paraffin embedded (FFPE) material in a clinical setting is still scarce.
Nadja Ballin, Alexander Ott, Michaela Pogoda, Florian Harmuth, Vijay Kumar Ulaganathan, Anton Karelin, Cristiana Roggia, Irina Bonzheim, Stephan Singer, Holly Sundberg‐Malek, Pavlos Missios, Stephan Ossowski, Tobias B. Haack, Olaf Riess, Michael Bitzer, Nisar Malek, Christopher Schroeder, Sorin Armeanu‐Ebinger   +17 more
wiley   +1 more source

The Functioning of the Second and Third Infinitives in the Veps Language: A Corpus-Based Study Using the VepKar Corpus

Финно-угорский мир
Introduction. The Veps language, as a language with a relatively recent written tradition, requires special attention in terms of the analysis of its grammatical structure.
Maria V. Kosheleva
doaj   +1 more source

Prenatal Presentation of Muggenthaler‐Chowdhury‐Chioza Syndrome Caused by Compound Heterozygous Variants in HYAL2

Prenatal Diagnosis, EarlyView.
Pauline Planté‐Bordeneuve, Anne‐Cécile Leroy‐Tarissi, Marine Tessarech, Pauline Gras, Anne Dieux‐Coëslier, Morgane Stichelbout, Sonia Bouquillon, Thomas Smol   +7 more
wiley   +1 more source